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Polydactyly, postaxial, type A6(PAPA6)

MedGen UID:
815219
•Concept ID:
C3808889
•
Disease or Syndrome
Synonyms: PAPA6; POLYDACTYLY, POSTAXIAL, TYPE A6
 
Gene (location): ZNF141 (4p16.3)
 
Monarch Initiative: MONDO:0014090
OMIM®: 615226

Clinical features

From HPO
Postaxial hand polydactyly
MedGen UID:
609221
•Concept ID:
C0431904
•
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
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Postaxial foot polydactyly
MedGen UID:
384489
•Concept ID:
C2112129
•
Finding
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
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Broad phalanges of the 5th finger
MedGen UID:
869981
•Concept ID:
C4024412
•
Anatomical Abnormality
Increased width of the phalanges of the 5th finger.
See: Feature record | Search on this feature
Abnormal dental morphology
MedGen UID:
11849
•Concept ID:
C0040427
•
Anatomical Abnormality
An abnormality of the morphology of the tooth.
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Abnormal sweat gland morphology
MedGen UID:
892310
•Concept ID:
C0262643
•
Anatomical Abnormality
Any structural abnormality of the sweat gland.
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Abnormality of the nail
MedGen UID:
163115
•Concept ID:
C0853087
•
Anatomical Abnormality
Abnormality of the nail.
See: Feature record | Search on this feature
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Recent clinical studies

Diagnosis

An unusual presentation of postaxial polydactyly of the foot.
López-López D, Becerro-de-Bengoa-Vallejo R, Losa-Iglesias ME, Bautista Casasnovas AL
Int Wound J 2017 Oct;14(5):811-812. Epub 2016 Dec 2 doi: 10.1111/iwj.12700. PMID: 27910230Free PMC Article

Supplemental Content

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    Clinical resources

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed (OMIM)
      Related literature resources in PubMed

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